General Information

/General Information

Executive Function Skills and School

Chris A. Zeigler Dendy, M.S., Teaching Teens with ADD, ADHD, and Executive Function Deficits, 2nd edition ISBN# 978-1-60613-016-2 This article is not specific to X and Y conditions but it does present useful information about executive skills and how challenges in this area can impact kids in school. Excerpt: "Clearly school is often very difficult for [...]

October 25th, 2016|

Important counsel to professionals to aid diagnosis

Language Delay in Boys? Consider Klinefelter Syndrome Report on presentation by Dr. Charlotte M. Boney, chief of the division of pediatric endocrinology and metabolism at Hasbro Children’s Hospital in Providence, R.I. "Seventy-five percent of guys with Klinefelter syndrome aren’t diagnosed until they are adults. We are missing the opportunity to diagnose Klinefelter when we could [...]

October 25th, 2016|

Bottled water may boost kids’ tooth decay, dentists say

More Information: CDC Information (revised): http://www.cdc.gov/fluoridation/faqs/bottled_water.htm Update  courtesy of TimberCrest Dental Center NY Times Article:  http://nyti.ms/I2wxeg Study: Oral Health Improving for Most Americans, But Tooth Decay Among Preschool Children on the Rise  http://1.usa.gov/HYio4X http://vitals.msnbc.msn.com/_news/2012/03/20/10778671-bottled-water-may-boost-kids-tooth-decay-dentists-say Children who have X and Y chromosome variations have more frequent dental problems.  Those who have 47,XXY, in particular, often have [...]

October 25th, 2016|

Gambling Addiction Research

Gambling Addiction research report from the 25th European College of Neuropsychopharmacology (ECNP) Congress. Very interesting research on compulsive gambling. May have direct implications for some of the continued impulsive behavior activities sometimes seen with XXY and other SCA conditions. Also notye the author's comment at the end...he seems to feel cognitive behavior therapy and building other [...]

October 24th, 2016|

Meta Search Tool for Research Articles on Chromosomal Variations

The database of CHROMOSOMAL VARIATION IN MAN consists of a systematic collection of important citations from the world's literature reporting on all common and rare chromosomal alterations, phenotypes, and abnormalities in humans. The database is organized by variations and anomalies, numerical anomalies, and chromosomal breakage syndromes. It contains over 24,000 entries updated continuously since 1974. [...]

October 24th, 2016|

NORD Praises SSA for Expanding Program to Help People with Devastating Diseases

Compassionate Allowances Program Provides Expedited Disability Review for Patients with Severely Disabling Diseases Some individuals with X and Y chromosome variations qualify for Social Security benefits for disability. It's no surprise that the Compassionate Allowances Program does not list X and Y chromosome variations as qualifying conditions.  This will not apply to many, but for [...]

October 24th, 2016|

VIDEO: Visualizing Nondisjunction

Video that illustrates the process of nondisjunction:  click here.

October 24th, 2016|

Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders

Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders. Full Article Authors:  Nancy Raitano Lee, Gregory L. Wallace, Elizabeth I. Adeyemi, Katherine C. Lopez, Jonathan D. Blumenthal, [...]

October 24th, 2016|

What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study

Introduction Most fetuses and babies with an extra sex chromo­ some are not identified1 because there are usually no indications for karyotyping.2–6 However, a sex chromo­ some anomaly is sometimes detected prenatally when amniocentesis is performed to exclude Down's syndrome or other serious chromosomal anomalies. Conditions in which there is an extra sex chromosome are [...]

October 23rd, 2016|

Advocacy ATLAS

From our partners at Genetic Alliance, a great tool for navigating the challenges of advocacy for individuals with special needs in the USA: Click to visit Advocacy ATLAS

October 21st, 2016|